To introduce the background knowledge, clinical manifestations and laboratory analysis of thalassemia in detail, a clinical case of β-thalassemia was shared and analyzed.

The case was analyzed and diagnosed by combining the results of complete blood cell analysis, hemoglobin electrophoresis, and further refinement of genetic tests.

The patient's laboratory results showed the RBC count of 3.95×10¹²/L, Hb level of 83 g/L, hematocrit (HCT) of 0.25 L/L, mean corpuscular volume (MCV) of 63.3 fl, and mean corpuscular hemoglobin (MCH) of 21.0 pg. Hemoglobin electrophoresis revealed a lower-than-normal proportion of hemoglobin A (HbA) and higher-than-normal proportions of hemoglobin A2 (HbA2) and hemoglobin F (HbF). Genetic testing confirmed the patient's diagnosis of β-thalassemia with a heterozygous mutation at the CD41-42 locus.

Complete blood cell analysis is the simplest test for initial screening of anemia. If abnormalities occured, further hemoglobin electrophoresis and genetic test should be performed to determine whether the patient has thalassemia or carries the thalassemia gene.